Results 91 to 100 of about 29,971 (311)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Pathomorphological study of malformed ossicles in the mousefetus caused by maternal hypervitaminosis A [PDF]
, 1984 Pregnant ddN mice were injected with 15,000 I.U. of water miscible vitamin A intraperitoneally on day 8 of pregnancy. Fetuses were removed surgically on day 18.
Masayuki KAJIHARA, Kajihara, Masayuki
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
Educational needs in adults with congenitally malformed hearts
, 2008 Background and aim: The number of adults with congenitally malformed hearts is growing, and there is an increasing demand for their continuous follow-up.
Rönning, Helén, +6 more
core +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Abnormal trilobites from the Silurian and Devonian of Europe
Acta Palaeontologica PolonicaMalformed trilobites have been documented in deposits ranging from the Cambrian to the Permian. Continued examination of novel malformed specimens provides insight into how trilobites recovered from injuries, experienced genetic abnormalities, and ...
Russell D.C. Bicknell +3 more
doaj +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
A malformed fetus in a rudimentary uterine horn pregnancy
, 2000 We present a case of a 13-week pregnancy with a malformed fetus in a ruptured non-communicating rudimentary horn. The patient, a 21-year-old woman with pelvic and right-sided abdominal pain, was admitted to the gynecology clinic of our institution.
Has, Recep, YILDIRIM, A, ERMIS, H
core +1 more source
White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram +3 more
wiley +1 more source